Global Variome shared LOVD

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Phenotype #0000300514 Individual ID 00408388 Associated disease - Phenotype details 17m: normal fundi; electroretinogram: reduced responses under light-adapted conditions and no response under dark-adapted conditions; poor night vision; 2y6m: mild myopia (-3.0 D in both eyes) 22y: poor night vision and peripheral vision; bilateral visual acuity of 6/76, mild to moderate attenuation of arterioles, mild peripheral bone spicule-like pigmentation in the fundus, no optic disc atrophy; optical coherence tomography: severe thinning at the macula; no cataracts, keratoconus, or macular edema Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite rod-cone dystrophy Age/Examination 22y (22 years) Age/Diagnosis - Age/Onset 3m Phenotype/Onset nystagmus, poor pupillary constriction to strong light, retinal pallor Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-04-20 20:45:47 +02:00 (CEST) Date last edited N/A

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